Further characterization of NFIB-associated phenotypes: Report of two new individuals.

Autor: Marinella G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Conti E; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Buchignani B; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Pisa, Italy., Sgherri G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Pasquariello R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Giordano F; Department of Neurosurgery, Children's Hospital A. Meyer-University of Florence, Firenze, Florence, Italy., Cristofani P; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Pisa, Italy., Battaglia A; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 540-545. Date of Electronic Publication: 2022 Nov 02.
DOI: 10.1002/ajmg.a.63018
Abstrakt: Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23-p22.3 containing NFIB. The first is a 7-year 9-month old boy with developmental delays, ID, definite facial anomalies, and brain and spinal cord magnetic resonance imaging findings including periventricular nodular heterotopia, hypoplasia of the corpus callosum, arachnoid cyst in the left middle cranial fossa, syringomyelia in the thoracic spinal cord and distal tract of the conus medullaris, and a stretched appearance of the filum terminale. The second is a 32-year-old lady (the proband' mother) with dysmorphic features, and a history of learning disability, hypothyroidism, poor growth, left inguinal hernia, and panic attacks. Her brain magnetic resonance imaging findings include a dysmorphic corpus callosum, and a small cyst in the left choroidal fissure that marks the hippocampal head. Array-based comparative genomic hybridization identified, in both, a 232 Kb interstitial deletion at 9p23p22.3 including several exons of NFIB and no other known genes. Our two individuals add to the knowledge of this rare disorder through the addition of new brain and spinal cord MRI findings and dysmorphic features. We propose that NFIB haploinsufficiency causes a clinically recognizable malformation-ID syndrome.
(© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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