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22Q13.3 Deletion Syndrome: a Recognizable Malformation Syndrome Associated with Marked Speech and Language Delay

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22Q13.3 Deletion Syndrome: a Recognizable Malformation Syndrome Associated with Marked Speech and Language Delay American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 145C:393–398 (2007) ARTICLE 22q13.3 Deletion Syndrome: A Recognizable Malformation Syndrome Associated With Marked Speech and Language Delay KRISTINA CUSMANO-OZOG,* MELANIE A. MANNING, AND H. EUGENE HOYME The 22q13.3 deletion syndrome is a recognizable malformation syndrome associated with developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth and dysmorphic facies. The prevalence of this disorder is unknown, but it is likely under-diagnosed. Age at diagnosis has varied widely, from cases diagnosed prenatally to 46 years. Males and females are equally affected. The distal 22q deletion can be detected occasionally by routine or high resolution chromosome analysis; however, the majority of cases are detected by FISH analysis, associated with deletion of the ARSA (control) probe when performing a FISH analysis for the velocardiofacial syndrome (del 22q11.2). The 22q13.3 deletion syndrome can accompany a simple chromosome deletion, an unbalanced translocation, or a ring chromosome. Primary care physicians, in addition to numerous specialists, play an important role in caring for patients with this disorder. Although the dysmorphic features observed in this condition are nonspecific, it is an important consideration in the differential diagnosis of children with developmental delay, hypotonia, marked speech and language disability, autistic-like features, multiple minor anomalies, and normal growth and head circumference. ß 2007 Wiley-Liss, Inc. KEY WORDS: deletion 22q13.3; terminal 22q deletion syndrome; chromosome anomaly; dysmorphology; autism; speech and language delay; developmental disabilities How to cite this article: Cusmano-Ozog K, Manning MA, Hoyme HE. 2007. 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet Part C Semin Med Genet 145C:393–398. INTRODUCTION terminal deletion of 22q. No such behavior, normal to accelerated growth deletion was identified in a study of a and head circumference, and dysmor- Cryptic subtelomeric chromosome control population of normal individu- phic facial features. The prevalence of rearrangements account for 6–10% of als. Since that time, a number of reports this condition is unknown, but it is likely cases of idiopathic of mental retardation. of this disorder have been published, and under-diagnosed. Age at diagnosis has In 1995, Flint et al. [1995] evaluated 99 the pattern of malformation associated patients with idiopathic mental retarda- with this finding has been delineated. tion for subtelomeric chromosomal Patients with terminal deletions of rearrangements and identified three 22q share a common phenotype, includ- individuals with monosomy. Two of Patients with terminal ing developmental delay, hypotonia, these patients were noted to have a delayed or absent speech, autistic-like deletions of 22q share a common phenotype, including developmental delay, Kristina Cusmano-Ozog, M.D., is a Senior Medical Genetics Resident in the Stanford UCSF Medical Genetics Program. Her research interests include inborn errors of metabolism and the hypotonia, delayed or absent clinical delineation of malformation syndromes. Melanie A. Manning, M.D., is a Clinical Assistant Professor of Pathology and Pediatrics at speech, autistic-like behavior, Stanford University School of Medicine. Dr. Manning serves as the Associate Director of the Clinical Cytogenetics Laboratory at Stanford University Medical Center. She has a longstanding normal to accelerated growth interest in clinical cytogenetics and in the deletion 22q13.3 syndrome in particular. and head circumference, and H. Eugene Hoyme, M.D., is currently Professor and Chairman of the Department of Pediatrics at the Sanford School of Medicine of the University of South Dakota and Pediatrician-in-Chief of dysmorphic facial features. The Sanford Children’s Hospital in Sioux Falls, SD. Dr. Hoyme is a dysmorphologist with interests in the clinical delineation of malformation syndromes, teratology, the fetal alcohol syndrome and prevalence of this condition medical education. *Correspondence to: Kristina Cusmano-Ozog, M.D., Division of Medical Genetics, H-315, is unknown, but it is likely Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305-5208. E-mail: [email protected] under-diagnosed. DOI 10.1002/ajmg.c.30155 ß 2007 Wiley-Liss, Inc. 394 AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c ARTICLE varied widely, from cases diagnosed deletion 22q13.3 has been identified protein 2, ProSAP2 prenatally to 46 years. Males and females because he or she was used as a control are equally affected [Manning et al., 2004]. for VCF FISH analysis or was being (SHANK3), was a good The purpose of this report is to evaluated for VCF by FISH analysis. candidate gene for the 22q13.3 review the existing literature regarding [Phelan et al., 2001; Havens et al., 2004; deletion 22q13.3 syndrome and to Manning et al., 2004; Phelan, 2005]. deletion syndrome, as it is suggest clinical management and genetic preferentially expressed in the counseling guidelines for affected indi- MOLECULAR cerebral cortex and cerebellum viduals and their families. CHARACTERIZATION and it encodes a scaffolding Nesslinger et al. [1994] characterized the CYTOGENETIC protein involved in the critical area for the del 22q13.3 syn- DESCRIPTION drome in seven patients with deletions postsynaptic density of 22q13.3 deletions result from the loss of ranging in size from 5 to 8 Mb, demon- excitatory synapses. genetic material from the terminus of strating that the critical area for the the long arm of one copy of chromo- deletion breakpoint occurred between some 22. Monosomy 22q13.3 can D22S92 and D22S94. Wonget al. [1997] boy with developmental delay, severe accompany a simple deletion, an unbal- subsequently reduced the critical area speech delay, hypotonia and dysmorphic anced translocation, or a ring chromo- to an area of 130 kb. Anderlid et al. features. Chromosome analysis showed some. About 75% of all cases are simple [2002] further refined the area to 100 kb, a translocation; 46,XY,t(12;22)(q24.1; deletions, with the remaining 25% of which contains three genes, ProSAP2 q13.3). Sequence analysis identified the cases resulting from structural rearrange- (SHANK3), ACR and RABL2B. breakpoint on 22 at position 296489/ ments of the affected segment. Deletion Schroder et al. [1998] compared 296494, within exon 21 of the human 22q13.3 is usually a de novo finding; cytogenetic findings with molecular data homologue of the rat ProSAP2 (Shank-3 however, approximately 20% of cases are obtained by FISH and an array of and SPANK-2). The ProSAP2 gene familial, in which a child receives an bacterial artificial chromosome (BAC) spans a 60-kb region on chromosome unbalanced chromosome complement recombinants. Clinical features shared 22. It has 22 exons and lies between from a parent who carries a balanced by these three individuals included ARSA and acrosin. Northern blot reciprocal translocation. Mosaic cases normal to accelerated growth, hypoto- analysis of human tissues showed a 3- have also been described. The deletion nia, and delayed psychomotor and kb band expressed in heart, kidney, liver is usually terminal and includes the speech development. Hearing loss was and placenta and two transcripts (7- and telomere; however, interstitial deletions detected in three patients and kidney 8-kb) seen in brain. have been demonstrated in which abnormalities were noted in two. One Wilson et al. [2003] further charac- the telomere is spared. The deletion had a deletion with the breakpoint terized the role of SHANK3 in 22q13.3 occasionally can be detected by high between D22S40 and D22S97. Another deletion syndrome by evaluating 56 resolution chromosome analysis, but had a 38 cM deletion with the break- patients. The size of the deletion varied the majority of cases are detected point between D22S92 and D22S95. from 130 kb to over 9 Mb, and all cases by fluorescence in situ hybridization The last had a 26 cM deletion with the that could be analyzed (45/56) demon- (FISH) analysis using either the arylsul- breakpoint between D22S97 and strated a deletion of an area containing fatase A (ARSA) or D22S1726 (subtelo- D22S94. These breakpoints occurred SHANK3. Nine of these patients meric) probe. Use of both probes is within the critical area reported by previously had been reported [Zwaigen- recommended, since distal deletions Nesslinger. baum et al., 1990; Phelan et al., 1992; may be missed with the ARSA probe Bonaglia et al. [2001] suggested that Powell et al., 1993; Nesslinger et al., alone, and interstitial deletions may be proline rich synapse associated protein 2, 1994; Feldman et al., 1995; Flint et al., missed with the D22S1726 probe alone. ProSAP2 (SHANK3), was a good can- 1995; Eydoux et al., 1996; Wong et al., Using both probes detects 100% of cases. didate gene for the 22q13.3 deletion 1997]. Eleven patients exhibited unbal- Comparative genomic hybridization syndrome, as it is preferentially expressed anced translocations, three of which (CGH) can be used to not only identify in the cerebral cortex and cerebellum were inherited. One was mosaic and the deletion in suspected cases, but and it encodes a scaffolding protein one had a complex chromosome rear- also to further characterize the size of involved in the postsynaptic density of rangement
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