Author: Shazia Maqbool

1.

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome)

Bibi H, Ahmad R, Rahman F, Maqbool S, Naeem M, Efthymiou S, et al.

Mol Biol Rep . 2025 Jan; 52(1):101. PMID: 39754633

Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive...

2.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Aughey G, Cali E, Maroofian R, Zaki M, Pagnamenta A, Ali Z, et al.

Brain . 2024 Dec; PMID: 39692517

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However,...

3.

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

Rahman F, Marsili L, Pasquetti D, Rad A, Anjum M, Oprea G, et al.

Eur J Hum Genet . 2024 Dec; PMID: 39668186

Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details...

4.

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder

Aughey G, Cali E, Maroofian R, Zaki M, Pagnamenta A, Rahman F, et al.

medRxiv . 2024 May; PMID: 38746364

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However,...

5.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, et al.

Brain . 2024 Mar; 147(8):2775-2790. PMID: 38456468

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP...

6.

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder

Almannai M, Marafi D, Zaki M, Maroofian R, Efthymiou S, Saadi N, et al.

Clin Genet . 2024 Feb; 105(6):620-629. PMID: 38356149

PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals....

7.

Establishing performance standards for child development: learnings from the ECDI2030

Petrowski N, De Castro F, Davis-Becker S, Gladstone M, Alves C, Becher Y, et al.

J Health Popul Nutr . 2023 Dec; 42(1):140. PMID: 38087377

Background: Standards of early childhood development (ECD) are needed to determine whether children living in different contexts are developmentally on track. The Early Childhood Development Index 2030 (ECDI2030) is a...

8.

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Accogli A, Zaki M, Al-Owain M, Otaif M, Jackson A, Argilli E, et al.

Brain Commun . 2023 Oct; 5(5):fcad222. PMID: 37794925

encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in were shown to cause...

9.

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H, Lewis S, Bakhtiari S, Nordlie S, Pagnozzi A, Magee H, et al.

Brain . 2023 Sep; 147(1):311-324. PMID: 37713627

Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system....

10.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki M, Ferla M, et al.

Brain . 2023 Jul; 146(12):5031-5043. PMID: 37517035

MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental...