Skip to content
Log in
Sponsored Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt
Case report

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing

S. R. Ahmad Md Zeyaullah Mohammad Suhail Khan Abdelrhman A G Altijani Ali Mohieldin K. Muzammil
Aug 2026 · Human Genetics · Vol 145 · 0 citations · 36 references
Medicine

TL;DR

Tetratricopeptide Repeat Domain 14 plays a crucial role in RNA metabolism during neurodevelopment, and that the p.His30Arg variant impairs its function, possibly leading to a neurodevelopmental disorder within the lissencephaly spectrum.

DOI PubMed Semantic Scholar
View source

Similar papers

Open access Aug 2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone, and movement abnormalities

The data establish BHLHE22 as a previously unrecognized neurodevelopmental disease gene that results in a distinct syndrome characterised by abnormalities in brain development, cognition, tone and movement.

Carolyn Le, T. Kalaycı, Z. Uyguner et al. · 0 citations
Open access Jul 2026

Identification and growth features of developmental delay with macrocephaly caused by a novel TRIO variant affecting the second SH3 domain.

The findings broaden the variant landscape of TRIO, establish a correlation between macrocephaly and TRIO variants within the second SH3 domain, provide the first detailed growth chart for a patient with TRIO-associated macrocephaly, and deepen the understanding of developmental impairments attributed to TRIO variants.

Siyuan Zhang, Jie-Yuan Jin, Lei Zeng et al. · 0 citations
Open access Jul 2026

Comprehensive Transcriptomic and Proteomic Profiling of CILD40 with Novel Compound Heterozygous Mutations of DNAH9

Plasma proteomic analysis of patients with CILD40 identified significant enrichment of pathways related to platelet activation, complement and coagulation cascades and differential signatures in CILD40, highlighting the potential of plasma proteomics for understanding distinct pathogenic mechanisms across PCD subtypes.

Siming Kong, Mingshuo Wang, Xue-Dong Wang et al. · 0 citations
Aug 2026

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

This case broadens the mutational spectrum of YIF1B-related disease and highlights the distinctive clinical pattern of KABAMAS, with an 11-month-old Turkish girl with profound developmental delay, absent head control, poor feeding, laryngomalacia and cortical visual impairment.

Sabire Gokalp, A. Olgaç, Fehime Erdem Karapinar et al. · 0 citations
Aug 2026

Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.

Findings support a dose-dependent SLC20A2 disease spectrum and expand the phenotype associated with biallelic loss of function from primary brain calcification toward severe early-onset neurodevelopmental disorder with prominent vascular and leptomeningeal calcification.

Mehmet Burak Mutlu, Abdullah Sezer, Elif Özdemir et al. · 0 citations
Aug 2026

PIK3CA in-frame deletion-activated PI3K/AKT signaling pathway drives macrodactyly.

The role of the PI3K/AKT pathway in the PIK3CA-related overgrowth is clarified, with one pediatric patient carrying a novel mosaic de novo in-frame deletion mutation in the PIK3CA gene identified.

Jing-Heng Wu, Shan-Lin Chen, Yun-Hao Xue et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.