title: Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.
abstract: Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with renal and central nervous system malformations, cleft palate, severe ocular anomalies, and cutis laxa, in addition to the previously described clinical data present in other cases with deletions encompassing this region, such as developmental delay, seizures, round face with a prominent nose, micro/retrognathia, half-opened mouth, short neck, hand/foot malformations, hernia, congenital heart malformations, and abnormal external genitalia. The deletion spanned ∼18.6 Mb and included a total of 68 OMIM protein coding genes. We have reviewed 17 cases previously described in the literature and in DECIPHER involving the chromosomal region 1p31.1p31.3. Only 3 of these affect the whole region, 9 are partial deletions of this region, and 5 are much smaller deletions. Taking into account the MORBID ID and the haploinsufficiency score of the genes, we go on to propose which genes may explain particular clinical features observed in the patient.IL23Rmay be responsible for the craniosynostosis,FOXD2for the renal anomalies,LHX8for closure defects of the palate, andST6GALNAC3for skin anomalies. In summary, we have identified a chromosome 1p31.1p31.3 deletion in a patient with an atypical presentation of craniosynostosis amongst other more typical features observed in individuals with similar deletions.
authors.affiliation: Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Multidisciplinary Unit for Skeletal Dysplasias (UMDE), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
authors.forename: Carlos I
authors.initials: CI
authors.lastname: Rivera-Pedroza
authors.affiliation: Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Multidisciplinary Unit for Skeletal Dysplasias (UMDE), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Hospital Universitario Doce de Octubre, Madrid, Spain.
authors.forename: Jimena
authors.initials: J
authors.lastname: Barraza-García
authors.affiliation: Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Paumard-Hernández
authors.affiliation: Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Hospital Universitario Doce de Octubre, Madrid, Spain.
authors.forename: Julian
authors.initials: J
authors.lastname: Nevado
authors.affiliation: Neonatology, Hospital Universitario Doce de Octubre, Madrid, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: Orbea-Gallardo
authors.affiliation: Dysmorphology Units, Hospital Universitario Doce de Octubre, Madrid, Spain.
authors.forename: Jaime
authors.initials: J
authors.lastname: Sánchez Del Pozo
authors.affiliation: Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Multidisciplinary Unit for Skeletal Dysplasias (UMDE), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Hospital Universitario Doce de Octubre, Madrid, Spain.
authors.forename: Karen E
authors.initials: KE
authors.lastname: Heath
keywords: Chromosome 1; Craniosynostosis; Deletion