A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

被引：24

作者：

Steindl, K. ^{[1
,2
]}

Alazami, A. M. ^{[3
]}

Bhatia, K. P. ^{[4
]}

Wuerfel, J. T. ^{[5
]}

Petersen, D. ^{[5
]}

Cartolari, R. ^{[6
]}

Neri, G. ^{[2
]}

Klein, C. ^{[7
]}

Mongiardo, B. ^{[1
]}

Alkuraya, F. S. ^{[3
]}

Schneider, S. A. ^{[4
,7
]}

机构：

[1] Osped Belcolle, Med Genet Unit, Viterbo, Italy

[2] Univ Cattolica Sacro Cuore, Inst Med Genet, Rome, Italy

[3] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[4] Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England

[5] Osp Belcolle, Inst Neuroradiol, Viterbo, Italy

[6] Osp Belcolle, Neuroimaging Unit, Viterbo, Italy

[7] Med Univ Lubeck, Sect Clin & Mol Neurogenet, Dept Neurol, D-23538 Lubeck, Germany

来源：

CLINICAL GENETICS | 2010年 / 78卷 / 06期

关键词：

DIABETES-MELLITUS; MENTAL-RETARDATION; HYPOGONADISM; ALOPECIA; DEAFNESS; DISEASE; FAMILY;

D O I：

10.1111/j.1399-0004.2010.01447.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：594 / 597

页数：4

共 29 条

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[4] A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin [J].

Habib, Rabia ;

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Ahmad, Wasim .

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[5] Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene [J].

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PEDIATRIC DERMATOLOGY, 2014, 31 (01) :83-87

[6] Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome [J].

Abdulla, Mansoor C. ;

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Alungal, Jemshad ;

Koya, Jassim M. ;

Musambil, Mohthash .

JOURNAL OF GENETICS, 2015, 94 (03) :489-492

[7] A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature [J].

Kurnaz, Erdal ;

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JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2019, 32 (11) :1287-1293

[8] A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17 [J].

Sendur, Suleyman Nahit ;

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Alikasifoglu, Mehmet .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 62 (08)

[9] Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse- Sakati Syndrome [J].

Almeqdadi, Mohammad ;

Kemppainen, Jennifer L. ;

Pichurin, Pavel N. ;

Gavrilova, Ralitza H. .

AMERICAN JOURNAL OF CASE REPORTS, 2018, 19 :347-353

[10] Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome. [J].

Kumari, Riyanka ;

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Pal, Pramod Kumar ;

Muthusamy, Babylakshmi .

JOURNAL OF NEUROENDOCRINOLOGY, 2022, 34 (10)

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