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Journals / Haseki Tıp Bülteni / 2020 / Cilt: 58 - Sayı: 2

A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy

Merozin Negatif Müsküler Distrofi Tanılı İki Kardeşte Yeni Tanımlanmış Bir Çerçeve Kayma Mutasyonu

Senem AYÇA
Sırrı ÇAM
Hamide Betül GERİK ÇELEBİ
Pages
208–210
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

With the diagnosis of merosin-deficientcongenital muscular dystrophy (MDC1A), LAMA2 genemutation analysis revealed an NM_000426.3:c.163_163delA;(p.N55Mfs*16) homozygous frameshift mutation in the siblings.This mutation leads to a premature stop codon and has not beenreported previously in the literature.

📌 3 Key Takeaways

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Objective & Hypothesis:We present two siblings with elevated serum creatine kinaseconcentrations, developmental delay, muscle weakness, andcontractures of the lower limbs.
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Key Findings & Data:Cranial magnetic resonanceimaging revealed diffuse white matter hyperintensity in bothsiblings.
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Conclusion & Impact:With the diagnosis of merosin-deficientcongenital muscular dystrophy (MDC1A), LAMA2 genemutation analysis revealed an NM_000426.3:c.163_163delA;(p.N55Mfs*16) homozygous frameshift mutation in the siblings.This mutation leads to a premature stop codon and has not beenreported previously in the literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

We present two siblings with elevated serum creatine kinaseconcentrations, developmental delay, muscle weakness, andcontractures of the lower limbs. Cranial magnetic resonanceimaging revealed diffuse white matter hyperintensity in bothsiblings. In the older sister, muscle biopsy was performed;immunohistochemical studies showed a dystrophic patternand merosin deficiency. With the diagnosis of merosin-deficientcongenital muscular dystrophy (MDC1A), LAMA2 genemutation analysis revealed an NM_000426.3:c.163_163delA;(p.N55Mfs*16) homozygous frameshift mutation in the siblings.This mutation leads to a premature stop codon and has not beenreported previously in the literature.

Özet

Artmış serum kreatin kinaz seviyesi, gelişim geriliği, kas güçsüzlüğü ve alt ekstremitede kontraktürlerin olduğu iki kız kardeş sunulmuştur. Büyük kardeşte yapılan elektromiyogram miyopatik bulgular ile uyumluydu. Her iki kardeşteki kranial manyetik rezonans görüntülemede yaygın beyaz cevher sinyal artışı izlendi. Büyük kardeşe kas biyopsisi yapıldı ve immüno histokimyasal çalışmalar distrofik patern ve merozin negatifliği ile uyumluydu. Merozin negatif müsküler distrofi (MDC1A) ön tanısıyla yapılan LAMA2 gen mutasyon analizinde NM_000426.3:c.163_163delA; (p.N55Mfs*16) homozigot çerçeve kayma mutasyonu görüldü. Bu mutasyon prematür stop kodona yol açmaktadır ve daha önce literatürde saptanmamıştır.

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Cite This Article

AYÇA, S., ÇAM, S., ÇELEBİ, H. B. G. (2022). A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy. Haseki Tıp Bülteni, Cilt: 58 - Sayı: 2, 208–210. https://ajindex.com/articles/535045

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References (6)

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