Maznina Anna, Molodtsova-Zolotukhina Daria, Andreeva Nina, Esibov Anton, Bostanova Fatima M, Sharkov Artem, Doroshchuk Natalya A, Sagaydak Olesya V, Groznova Olga S, Woroncow Mary, Bogdanov Viktor P, Volchkov Pavel Y
Federal Research Center for Innovator and Emerging Biomedical and Pharmaceutical Technologies, Moscow, 125315, Russia.
Research Centre for Medical Genetics, 1 Moskvorechye St, Moscow, 115522, Russia.
Neurogenetics. 2025 Apr 3;26(1):41. doi: 10.1007/s10048-025-00822-x.
Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is a rare autosomal dominant condition that has demonstrated diverse phenotypes. This is the second case report published on this condition, covering the disease history of an 8 year old patient with a severe manifestation of the disease. The patient was born with hydrocephalus, and demonstrated major developmental delay as he aged. Whole-genome sequencing of the patient and his parents was conducted, detecting a de novo variant, NM_001378974.1:c.1220 A > T [p.Lys407Ile], located in the conserved WD4 region of the WD40 domain of FBXW11, which is consistent with all previously reported patients. The phenotype of the patient is presented with a focus on MRI and EEG features, including images and detailed description for both. While the patient's phenotype is overall consistent with previous findings, there are a number of major factors we believe are caused by the FBXW11 variant that have not been previously described, such as the patient's complete inability to walk.
神经发育、颌面部、眼部和指（趾）综合征（NEDJED）是一种罕见的常染色体显性遗传病，具有多种表型。这是关于该疾病的第二篇病例报告，涵盖了一名患有严重疾病表现的8岁患者的病史。该患者出生时患有脑积水，随着年龄增长出现严重发育迟缓。对患者及其父母进行了全基因组测序，检测到一个位于FBXW11的WD40结构域保守WD4区域的新发变异NM_001378974.1:c.1220 A＞T [p.Lys407Ile]，这与之前所有报道的患者一致。本文呈现了该患者的表型，重点关注MRI和EEG特征，包括两者的图像及详细描述。虽然该患者的表型总体上与之前的研究结果一致，但我们认为有一些主要因素是由FBXW11变异引起的，且此前未被描述过，比如患者完全无法行走。
