Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome

被引：0

作者：

Cinleti, Tayfun ^{[1
]}

Uzan, Gamze Sarikaya ^{[2
]}

Burce, Busra ^{[3
]}

Kucumen, Yagmur ^{[4
]}

Yalcin, Hatice Yelda ^{[5
]}

Gursoy, Semra ^{[1
,2
]}

Yis, Uluc ^{[2
]}

Caglayan, Ahmet Okay ^{[4
]}

Bozkaya, Ozlem Giray ^{[1
]}

机构：

[1] Dokuz Eylul Univ, Div Pediat Genet, Dept Pediat, Fac Med, Izmir, Turkiye

[2] Dokuz Eylul Univ, Div Pediat Neurol, Dept Pediat, Fac Med, Izmir, Turkiye

[3] Dokuz Eylul Univ, Dept Pediat, Fac Med, Izmir, Turkiye

[4] Dokuz Eylul Univ, Dept Med Genet, Fac Med, Izmir, Turkiye

[5] Izmir Tepecik Educ & Res Hosp, Dept Pediat Genet, Izmir, Turkiye

来源：

NEUROLOGY ASIA | 2023年 / 28卷 / 04期

关键词：

Warburg Micro syndrome; RAB3GAP1; novel variant; founder mutation; colpocephaly; RAB3GAP1; MUTATIONS;

D O I：

10.54029/2023htk

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Warburg Micro syndrome is a rare autosomal recessive disease due to pathogenic variants found most commonly in the RAB3GAP1 gene. It is commonly seen in consanguineous marriages and is characterized by optic, neurologic, endocrinologic and some non-typical findings (cardiomyopathy, peripheral neuropathy). Here, we report two male patients from healthy consanguineous and non-consanguineous carrier parents, with homozygous variants of the RAB3GAP1 gene, presenting with bilateral congenital cataracts, hypogonadism, hypotonia and developmental delay. The first case had a novel variant and had colpocephaly as shown in his MRI brain, which has not been previously reported in the medical literature. The second case was thought to have a founder mutation for Turkey. In conclusion, there was no phenotypical difference between the novel and founder mutations. In Turkish patients suspected to have Warburg Micro syndrome, we recommend molecular testing for the detection of a founder mutation.

引用

页码：1085 / 1094

页数：10

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Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G&gt;A) in Warburg Micro syndrome

Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome