RESUMO
Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. A small supernumerary chromosome is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11) in those affected. It's known that the 22q11 region is associated with disorders involving higher and lower gene dosages. Conditions such as CES, 22q11 microduplication syndrome (Dup22q11) and oculoauriculovertebral spectrum phenotype (OAVS) may share genes belonging to this same region, which is known to have a predisposition to chromosomal rearrangements. The conditions, besides being related to chromosome 22, also share similar phenotypes. Here we have added a molecular evaluation update and results found of the first patient described with CES and OAVS phenotype, trying to explain the potential mechanism involved in the occurrence of this association.
Assuntos
Transtornos Cromossômicos/genética , Duplicação Cromossômica , Anormalidades do Olho/genética , Síndrome de Goldenhar/genética , Aneuploidia , Criança , Transtornos Cromossômicos/patologia , Cromossomos Humanos Par 22/genética , Hibridização Genômica Comparativa , Anormalidades do Olho/patologia , Feminino , Dosagem de Genes , Síndrome de Goldenhar/patologia , HumanosRESUMO
Holoprosencephaly is the most common brain malformation in humans and it is a complex genetic disorder. We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. The patient was a 1 year and 4 months old girl that developed an important neuropsychomotor delay. Currently, she uses a wheelchair to move around and only emits sounds. Computed tomography (CT) scan revealed a semilobar holoprosencephaly and a Dandy-Walker variant. Head magnetic resonance imaging also disclosed corpus callosum agenesis and prefrontal subarachnoid space enlargement. On physical examination at 1 year and 4 months of age, we verified growth retardation, microcephaly, bilateral epicantic fold, upslanting palpebral fissures, bifid nose, and limbs spasticity secondary to hypertonia. Later, she began to present hypernatremia; however, its precise cause was not identified. At 6 years and 10 months of age, a nasal fistula was suspected. Facial CT scan showed an epidermal cyst at cartilaginous portion of the nasal septum. High resolution GTG-Banding karyotype was normal. However, molecular analysis through direct sequencing technique showed a mutation at regulatory region of the ZIC2 gene: c.1599*954T > A, a genetic variation previously described only in a Brazilian patient. Our patient presented findings still not reported in literature among patients with holoprosencephaly, including those with ZIC2 mutations. Thus, the spectrum of abnormalities associated to ZIC2 mutations may be broader and include other defects as those observed in our patient.
Assuntos
Cisto Epidérmico/genética , Holoprosencefalia/genética , Hipernatremia/genética , Proteínas Nucleares/genética , Mutação Puntual , Fístula do Sistema Respiratório/genética , Fatores de Transcrição/genética , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Cisto Epidérmico/diagnóstico , Fácies , Feminino , Holoprosencefalia/diagnóstico , Humanos , Hipernatremia/diagnóstico , Lactente , Imageamento por Ressonância Magnética , Fenótipo , Fístula do Sistema Respiratório/diagnóstico , Síndrome , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Gómez-López-Hernández syndrome is a rare genetic disease characterized by scalp alopecia with trigeminal anesthesia, brachycephaly or turribrachycephaly, midface retrusion, and rhombencephalosynapsis. We report the second case with this condition who presented with consanguineous parents. PATIENT: This boy was evaluated shortly after birth because of suspected craniosynostosis. He was the only son of healthy, consanguineous parents (his maternal grandmother and his paternal great-grandfather were siblings). His examination was notable for turribrachycephaly, prominent forehead, bilateral parietotemporal alopecia, midfacial retrusion, anteverted nostrils, micrognathia, low-set and posteriorly rotated ears, and short neck with redundant skin. Radiographs and tridimensional computed tomography scan of skull revealed lambdoid craniosynostosis. Brain magnetic resonance imaging revealed complete rhombencephalosynapsis, aqueductal stenosis, fused colliculi, abnormal superior cerebellar penducle, mild ventriculomegaly, and dysgenesis of the corpus callosum. CONCLUSIONS: Since its first description, 34 patients with this condition have been reported. The etiology of Gómez-López-Hernández syndrome is unknown. However, it is noteworthy that the patient in this report presented with a family history of consanguinity because this finding reinforces the possibility of an autosomal-recessive inheritance for this condition.
Assuntos
Anormalidades Múltiplas/genética , Alopecia/genética , Cerebelo/anormalidades , Consanguinidade , Anormalidades Craniofaciais/genética , Transtornos do Crescimento/genética , Síndromes Neurocutâneas/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Alopecia/diagnóstico por imagem , Alopecia/patologia , Encéfalo/patologia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/patologia , Genes Recessivos , Transtornos do Crescimento/diagnóstico por imagem , Transtornos do Crescimento/patologia , Humanos , Imageamento Tridimensional , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Síndromes Neurocutâneas/diagnóstico por imagem , Síndromes Neurocutâneas/patologia , Linhagem , Rombencéfalo/diagnóstico por imagem , Rombencéfalo/patologia , Crânio/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Carriers of paracentric inversions (PAIs) are usually asymptomatic. However, such inversions may lead to the formation of recombinant gametes and then to an abnormal gestation. Here we report a girl with a 7q31.32 â q33 deletion secondary to a maternal PAI of chromosome 7. This finding was confirmed through FISH and whole-genome array-CGH analyses. The deficiency of the chromosome 7 observed in our patient was never described before and we did not find any known gene localized within the deficient segment that could be related to her findings of hypoplastic iliac bones, hypoplastic labia minora and postaxial polydactyly. This case highlights the fact that rare viable recombinants can be developed from PAIs, an issue that must be discussed in the genetic counseling.