Studija slučaja
https://doi.org/10.3325/cmj.2023.64.334
Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report
Ljubica Odak
; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with daily care unit, Children’s Hospital Zagreb, Zagreb, Croatia
*
Katarina Vulin
; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with daily care unit, Children’s Hospital Zagreb, Zagreb, Croatia
Ana-Maria Meašić
; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with daily care unit, Children’s Hospital Zagreb, Zagreb, Croatia
Lara Šamadan
; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with daily care unit, Children’s Hospital Zagreb, Zagreb, Croatia
Ana Tripalo Batoš
; European Reference Network – Intellectual disability, Tele Health, Autism and Congenital Anomalies
* Dopisni autor.
Sažetak
Neurodevelopmental disorders are a large group of disorders that affect~3% of children and represent a serious
health problem worldwide. Their etiology is multifactorial
and includes genetic, epigenetic, and environmental causes. Mounting evidence shows the importance of genetic
causes, especially genes involved in the central nervous
system development. As recently discovered, the KMT5B
gene is related to abnormal activities of the enzymes that
regulate histone activity and gene expression during brain
development. Pathogenic KMT5B gene variants lead to autosomal dominant, intellectual developmental disorder
51 (OMIM # 617788). Also, reports on patients with additional features suggest that the KMT5B gene alterations
lead to multisystem involvement. Here, we report on a
male patient with a severe neurodevelopmental disorder
caused by a novel KMT5B gene variant inherited from his
mother. The patient had severe intellectual disability, absent speech, marked autistic behavior, attention deficit hyperactivity disorder, and different clinical features, including thoracic scoliosis, dysmorphic facial features, and tall
stature. In contrast, his mother, with the same KMT5B variant, had mild intellectual disability and some autistic traits
(stereotype hand movement). We elucidated pathogenetic
mechanisms that could influence phenotype characteristics. Our findings emphasize the importance of a comprehensive clinical and molecular approach to these patients
in order to provide optimal health care.
Ključne riječi
Hrčak ID:
331869
URI
Datum izdavanja:
30.9.2024.
Posjeta: 36 *