Tags

Type your tag names separated by a space and hit enter

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
Ophthalmic Genet. 2018 06; 39(3):391-395.OG

Abstract

BACKGROUND

Warburg micro syndrome is a very rare autosomal recessive disorder characterized by a mutation in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract, intellectual deficiency, contractures, and central nervous system abnormalities due to RAB3GAP2 gene mutations. The RAB3GAP2 gene encodes a member of the Rab3 protein family, which is involved in regulated exocytosis of neurotransmitters and hormones.

CASE PRESENTATION

We describe four siblings from healthy consanguineous Turkish parents with developmental delay, congenital cataract, and speech delay. In this study, we performed whole exom sequencing (WES) in a index patient. WES analyses in proposita showed a homozygous c.1998 + 1 G > A mutation in RAB3GAP2 gene. After the Sanger confirmation, the same mutation was detected in the other three siblings.

CONCLUSION

The four siblings had a novel splice site mutation in RAB3GAP2. This report compares the symptoms and features of the our patients with clinical summary of Warburg Micro syndrome 2 and Martsolf syndrome. Further reports will make possible knowing of the genetic and clinical backgrounds of this orphan diseases. Abbreviation: MRI: Magnetic resonance imaging.

Authors+Show Affiliations

a Department of Medical Genetics, Faculty of Medicine , University of Harran , Sanliurfa , Turkey.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29419336

Citation

Gumus, Evren. "Case Report of Four Siblings in Southeast Turkey With a Novel RAB3GAP2 Splice Site Mutation: Warburg Micro Syndrome or Martsolf Syndrome?" Ophthalmic Genetics, vol. 39, no. 3, 2018, pp. 391-395.
Gumus E. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? Ophthalmic Genet. 2018;39(3):391-395.
Gumus, E. (2018). Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? Ophthalmic Genetics, 39(3), 391-395. https://doi.org/10.1080/13816810.2018.1432065
Gumus E. Case Report of Four Siblings in Southeast Turkey With a Novel RAB3GAP2 Splice Site Mutation: Warburg Micro Syndrome or Martsolf Syndrome. Ophthalmic Genet. 2018;39(3):391-395. PubMed PMID: 29419336.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? A1 - Gumus,Evren, Y1 - 2018/02/08/ PY - 2018/2/9/pubmed PY - 2019/4/11/medline PY - 2018/2/9/entrez KW - Cataract KW - Martsolf syndrome KW - RAB3GAP2 KW - Warburg micro syndrome KW - mutation SP - 391 EP - 395 JF - Ophthalmic genetics JO - Ophthalmic Genet VL - 39 IS - 3 N2 - BACKGROUND: Warburg micro syndrome is a very rare autosomal recessive disorder characterized by a mutation in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract, intellectual deficiency, contractures, and central nervous system abnormalities due to RAB3GAP2 gene mutations. The RAB3GAP2 gene encodes a member of the Rab3 protein family, which is involved in regulated exocytosis of neurotransmitters and hormones. CASE PRESENTATION: We describe four siblings from healthy consanguineous Turkish parents with developmental delay, congenital cataract, and speech delay. In this study, we performed whole exom sequencing (WES) in a index patient. WES analyses in proposita showed a homozygous c.1998 + 1 G > A mutation in RAB3GAP2 gene. After the Sanger confirmation, the same mutation was detected in the other three siblings. CONCLUSION: The four siblings had a novel splice site mutation in RAB3GAP2. This report compares the symptoms and features of the our patients with clinical summary of Warburg Micro syndrome 2 and Martsolf syndrome. Further reports will make possible knowing of the genetic and clinical backgrounds of this orphan diseases. Abbreviation: MRI: Magnetic resonance imaging. SN - 1744-5094 UR - https://www.unboundmedicine.com/medline/citation/29419336/Case_report_of_four_siblings_in_southeast_Turkey_with_a_novel_RAB3GAP2_splice_site_mutation:_Warburg_micro_syndrome_or_Martsolf_syndrome L2 - https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1432065 DB - PRIME DP - Unbound Medicine ER -