protein 1 ubiqui n ligase complex. transmembrane the C2ORF37 gene (DCAF17) on chromosome 2q31. This gene encodes a nuclear 1. Figure truncated predicted a of 147 protein and shift frame a causes mutation 436DelC 520 of protein a for codes C2orf17 CUL4 system. ubiquitin the and (DDB1 with associated be may that but function unknown DCAF17 of envelop nuclear for a codes 17) factor associated C2orf37 mutations. the for heterozygous were parents Both siblings. three the in identified was gene DCAF17 the in 4 exon in c.436delC mutation Homozygous among affected members of the same family. The gene C2orf37, C2orf37, gene The family. same 2q22.3-q35. for chromosome WSS,on located is responsible which the of even members and affected syndrome among this symptoms with specific individuals of among significantly severity differs and manifestation onset, disease at retardation, mental signs, extrapyramidal progressive by characterized condition Woodhouse- o ecie h ciia ad eei caatrsis f Woodhouse- Sakati of characteristics genetic and clinical the describe To
57ESPE both patient, the in mutation sibling. and parents, the human confirm to Sanger for used respectively. was sequencing System guideline, (ISCN) International Nomenclature and Cytogenetic (HGVS) Society Variation copy Genome Human and the to according Sequence reported were alterations sequencing. number variants Capillary pathogenic using potentially confirmed all were variants sequence the analyze genome. the of junctions splice flanking an using sequencing Next-generation used. was DNA genomic patient’s The mental of degrees parents. their and the patients in performed was (WES) analysis different and included Whole severe. to mild from ranging retardation mellitus, siblings three diabetes the alopecia, of phenotype The E-mail 1 Sara Al-Khawaga, 254--P3 Department Woodhouse- : Syndrome diagnosed in three siblings siblings three in diagnosed Syndrome [email protected] STRING network interaction of DCAF17 gene. DCAF17 of interaction network STRING of Pediatric Medicine, Division of Endocrinology, Division Medicine, of Pediatric Qatar. Doha, Medicine, Sidra Illumina hypogonadism Sakati rti ta ascae with associates that protein aa on a Qatari Family with Gene Mutation C2orf37 Sara Al-Khawaga Growth and syndromes (toincludeTurner syndrome) Basma . system was used to capture the the capture to used was system syndrome (WSS) is rare autosomal recessive recessive autosomal rare is (WSS) syndrome
Haris transmembrane Sakati INTRODUCTION CASE REPORTCASE OBJECTIVE(S) , alopecia, and diabetes mellitus. The age age The mellitus. diabetes and alopecia, , , Reem METHODS
RESULTS Hasnah, Saras Saraswathi, Saraswathi, Saras Hasnah, Hussain Khalid Idris Mohammad, Sharari, Sanaa Saeed, Amira
Syndrome: Clinical and Molecular Study protein that localizes to the the to localizes that protein cullin Xome Admgd N binding DNA 4A/damaged fom Homozygous muta on in Analyzer was used to used was Analyzer Exome the state of Qatar. exonic hypogonadism Sequencing Sequencing aa region and and region . The c. The .
DOI: 10.3252/pso.eu.57ESPE.2018 , Figure 2. • • • •
3. 2. 1. The translational implications of this are that we might be be might we that are this of implications translational The and abnormalities hormonal behind mechanisms exact The how mutations in C2orf37 gene lead to the multiple multiple the to lead gene C2orf37 manifestations. endocrine in mutations how know we if disorder this for therapies novel develop to able gland. thyroid the and gonads pancreas, the mellitus, of function the diabetes into insights in gene C2orf37 hypogonadism of role the normal physiology. in gene C2orf37 provide the of will role the into WSS insights unclear. novel of remain basis molecular symptoms the and Understanding signs other the of Woodhouse- Mutations in DCAF17 account for the features features the for account DCAF17 in Mutations In relation to the endocrine manifestations, understanding understanding manifestations, endocrine the to relation In Disclosure-None of the authors have any potential conflict of conflict interest potential any have of the authors Disclosure-None
J Case Rep, 2018. DCAF17 Gene Muta on in Woodhouse- Am J Hum Genet, 2008. mellitus, mental retarda on, and extrapyramidal syndrome. nucleolar 1983. retarda on, deafness, and ECG abnormali es. hypogonadism Almeqdadi Alazami odos, .. n N.A. and N.J. Woodhouse, Sanger sequencing of affectedthe three sequencing Sanger WSS.with siblings 20 presented Poster AM, t al., et A.M., , (3): p. 216-9. rti, cause protein, M, t al., et M., , at: and hypothyroidism will provide unique unique provide will hypothyroidism and Sakati aoei, ibts elts mental mellitus, diabetes alopecia, , 19 CONCLUSION : p. 347-353. REFERNCES syndrome. syndrome.
83 uaos n 2r3, noig a encoding C2orf37, in Muta ons hntpc aiblt o c.436delC of Variability Phenotypic hypogonadism (6): p. 684-91. Saka . Saka , aoei, diabetes alopecia, , snrm of syndrome A Syndrome. J Med Genet, Am