NFIA haploinsufficiency: case series and literature review

被引：3

作者：

Dini, Gianluca ^{[1
]}

Verrotti, Alberto ^{[1
]}

Gorello, Paolo ^{[2
]}

Soliani, Luca ^{[3
,4
]}

Cordelli, Duccio Maria ^{[3
,4
]}

Antona, Vincenzo ^{[5
]}

Mencarelli, Amedea ^{[6
]}

Colavito, Davide ^{[7
]}

Prontera, Paolo ^{[6
]}

机构：

[1] Univ Perugia, Dept Pediat, Perugia, Italy

[2] Univ Perugia, Dept Chem Biol & Biotechnol, Perugia, Italy

[3] IRCCS Ist Sci Neurolog Bologna, UOC Neuropsichiatria Eta Pediat, Bologna, Italy

[4] Univ Bologna, Dipartimento Sci Med & Chirurg DIMEC, Bologna, Italy

[5] Univ Palermo, Dept Hlth Promot Mother & Child Care, Internal Med & Med Specialties G Alessandro, Palermo, Italy

[6] Osped S Maria Misericordia, Med Genet Unit, Perugia, Italy

[7] Res & Innovat SRL R&I Genet, Padua, Italy

来源：

FRONTIERS IN PEDIATRICS | 2023年 / 11卷

关键词：

NFIA; neurodevelopmental disorders; intellectual disability; genetics; pediatrics; HYPOPLASTIC CORPUS-CALLOSUM; 1P32-P-31 DELETION SYNDROME; SOTOS-LIKE; GENE; MICRODELETION; PATIENT; MUTATIONS; SPECTRUM;

D O I：

10.3389/fped.2023.1292654

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Background: NFIA-related disorder (OMIM #613735) is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment and non-specific dysmorphic features. To date, fewer than thirty patients affected by this disorder have been described.Methods: Our study included three children with NFIA haploinsufficiency recruited from three medical genetics centers. Clinical presentations were recorded on a standardized case report form.Results: All patients presented a variable degree of intellectual disability. None of the individuals in our cohort had urinary tract malformations. Three novel mutations, c.344G>A, c.261T>G, and c.887_888del are reported here.Conclusion: NFIA haploinsufficiency can be suspected through careful observation of specific dysmorphisms, including macrocephaly and craniofacial abnormalities. Instrumental tests such as MRI and renal ultrasound provide further diagnostic clues, while genetic testing can confirm the diagnosis.

引用

页数：8

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