Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis

Author:

Pavone Piero1ORCID,Pappalardo Xena Giada23ORCID,Praticò Andrea Domenico1,Polizzi Agata4,Ruggieri Martino1,Piccione Maria5,Corsello Giovanni5,Falsaperla Raffaele6

Affiliation:

1. Department of Clinical and Experimental Medicine, Pediatric Clinic, University Hospital, A.U.O. “Policlinico-Vittorio Emanuele,” Catania, Italy

2. National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, Catania, Italy

3. Department of Biomedical and Biotechnological Sciences (BIOMETEC), University of Catania, Catania, Italy

4. Department of Educational Sciences, Chair of Pediatrics, University of Catania, Catania, Italy

5. Operative Unit of Pediatrics and Neonatal Intensive Therapy, Department of Mother and Child, University of Palermo, Palermo, Italy

6. Department of Pediatrics and Pediatric Emergency, University Hospital, A.U.O. “Policlinico Vittorio Emanuele,” Catania, Italy

Abstract

AbstractThis study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring −2 or −3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: MCPH1; chr8.6357416; c.2180 C > T (rs 199861426), p.Pro727. Leu; heterozygous; missense; variant of uncertain significance (class 3). At the age of 10 years, the twins started to have, in coincidental time, marked asthenia and episodes of emotiveness, and laboratory exams disclosed a high level of antithyroid peroxidase leading to the diagnosis of autoimmune juvenile thyroiditis with normal thyroid function. The novel heterozygous MCPH1 variant found in the twins may be directly or indirectly involved in the onset of the primary microcephaly. The thyroid disorder in the twins and its onset, in a coincidental time, confirmed the effect of genetic predisposition on the pathogenesis of the immune thyroiditis.

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

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