A rare mutation in PRUNE 1- gene causing a neurodevelopmental disease with rare systemic manifestations in a Saudi child

https://doi.org/10.53730/ijhs.v6nS5.9503

Authors

  • Youssef A. Alqahtani Department of Child Health, College of Medicine, King Khalid University, Abha, Saudi Arabia
  • Bothaina M. Ghazali Pediatric Department, Abha Maternity and Children Hospital, Abha, Saudi Arabia
  • Huda F. Abbag Pediatric Department, Abha Maternity and Children Hospital, Abha, Saudi Arabia
  • Wejdan F. Abbag Medical student, College of Medicine, King Khalid University, Abha, Saudi Arabia
  • Majdoleen A. Alghamdi Medical student, College of Medicine, King Khalid University, Abha, Saudi Arabia
  • Sumiah A. Shati Medical intern, College of Medicine, King Khalid University, Abha, Saudi Arabia

Keywords:

Homozygous mutation, clinical features, case report, optic manifestations

Abstract

PRUNE 1- related disorder, is a neurodevelopmental problem characterized by microcephaly, hypotonia, and variable central nervous system abnormalities, it is a unique uncommon autosomal recessive disease caused by a homozygous or compound heterozygous mutation in the PRUNE1 gene on chromosome 1q21.4. Here we report a 15 months old girl who presented with characteristic features compatible with Prune syndrome informed of severe developmental delay, progressive microcephaly, hypertelorism, micrognathia and low set ears. The neurological evaluation revealed profound central hypotonia and spastic limbs with increased deep tendon reflexes. At the age of 15 months, she became more flaccid, with multiple hospitalizations because of recurrent aspiration, refractory seizure and severe gastroesophageal reflux disease. Eye examination showed severe optic atrophy. Further molecular genetic analysis revealed a homozygous variant c.383G>A – P(Arg128Gln)-chr1:150997134.

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Published

23-06-2022

How to Cite

Alqahtani, Y. A., Ghazali, B. M., Abbag, H. F., Abbag, W. F., Alghamdi, M. A., & Shati, S. A. (2022). A rare mutation in PRUNE 1- gene causing a neurodevelopmental disease with rare systemic manifestations in a Saudi child. International Journal of Health Sciences, 6(S5), 3968–3975. https://doi.org/10.53730/ijhs.v6nS5.9503

Issue

Vol. 6 No. S5 (2022)

Section

Peer Review Articles
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