Gülay Ceylaner

Genetic abnormalities in Turkish women with premature ovarian failure

To identify the distribution of cytogenetic abnormalities among Turkish women with premature ovarian failure (POF).

GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals

This study aimed to assess mutations in GJB2 gene (connexin 26), as well as A1555G mitochondrial mutation in both the patients with profound genetic nonsyndromic hearing loss and healthy controls. Ninety-five patients with profound hearing loss (>90 dB) and 67 healthy controls were included. All patients had genetic nonsyndromic hearing loss. Molecular analyses were performed for connexin 26 (35delG, M34T, L90P, R184P, delE120, 167delT, 235delC and IVS1+1 A → G) mutations, and for mitochondrial A1555G mutation. Twenty-two connexin 26 mutations were found in 14.7% of the patients, which were 35delG, R184P, del120E and IVS1+1 A → G. Mitochondrial A1555G mutation was not encountered. The most common GJB2 gene mutation was 35delG, which was followed by del120E, IVS1+1 A → G and R184P, and 14.3% of the patients segregated with DFNB1. In consanguineous marriages, the most common mutation was 35delG. The carrier frequency for 35delG mutation was 1.4% in the controls. 35delG and del120E populations, seems the most common connexin 26 mutations that cause genetic nonsyndromic hearing loss in this country. Nonsyndromic hearing loss mostly shows DFNB1 form of segregation.

Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family

The effect of genetic factors on hip dislocation, acetabular dysplasia, and developmental dysplasia of the hip (DDH) has long been recognized. In this report, we presented a large family that showed single gene inheritance for DDH. Pedigree analysis of a pregnant woman revealed a history of DDH in 16 members of the family. Although the pedigree showed autosomal dominant inheritance with reduced penetrance, the prevalence of DDH was considerably high, almost accounting for one-third of the family members, and skipping only one generation. Of 16 cases, three patients were diagnosed at our center. The remaining 13 patients were diagnosed at other centers. Dislocation was diagnosed very late in most of the family members, while four cases were diagnosed at birth. All family members were informed by a detailed clinical letter and recommended evaluation for DDH at every birth.

Extremely skewed X‐chromosome inactivation patterns in women with recurrent spontaneous abortion

Background:  The role of extremely skewed X‐chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting.

A case of fetal anticonvulsant syndrome with severe bilateral upper limb defect.

Women with epilepsy have a higher risk of having a dysmorphic child. We report on a child exposed prenatally to valproate and carbamazepine presenting with severe bilateral upper limb defect and phenotypic features of fetal valproate syndrome. Anticonvulsant drugs can cause severe birth defects, especially when used in combination.

A boy with trisomy 13 presenting with a subtle clinical picture and metopic synostosis.

A Boy With Trisomy 13 Presenting With a Subtle Clinical Picture and Metopic Synostosis Sevim Unal, Fatma Cakmak Celik,* Derya Soy, Serdar Ceylaner, and Gulay Ceylaner Neonatology Department, Republic of Turkey Ministry of Health Ankara Diskapi Children’s Health Training and Research Hospital, Diskapi, Ankara, Turkey Department of Pediatrics, Republic of Turkey Ministry of Health Ankara Diskapi Children’s Health Training and Research Hospital, Ankara, Turkey Intergen Genetics Center, Ankara, Turkey

Craniosynostosis and ectopia lentis in a propositus whose parents are cousins.

We have observed a 6-year-old propositus with craniosynostosis and ectopia lentis. Synostosis of the right parietal and temporoparietal sutures resulted in craniofacial asymmetry. Ectopia lentis was bilateral. The parents were second cousins, suggesting the possibility of autosomal recessive inheritance. However, consanguinity rates arehigher thannormal inTurkey. The disorder has been reviewed byQuercia andTeebi [2002], who reported two cousins: one with craniosynostosis, ectopia lentis, and peripheral pulmonic synostosis, the other with craniosynostosis, atrial septal defect, and mitral valve prolapse, but no ectopia lentis. Cruysberg et al. [1999] reported affected monozygotic twin sisters. Pesme et al. [1950] and Reichel et al. [1992] each described sporadic cases. To date, inheritance is unclear. Both autosomal dominant and autosomal recessive modes of inheritance should be considered. The affected cousins of Quercia and Teebi [2002] suggest dominant inheritance with incomplete penetrance; etiologic heterogeneity is also possible since cardiac defects were found in both cousins. The disorder needs to be further delineated. The disorder is clearly distinguishable from other known conditions with ectopia lentis: Marfan syndrome, cystathionine synthase deficiency (homocystinuria), and Weill–Marchesani syndrome. Isolated ectopia lentis can also occur. REFERENCES

Congenital Glucose–Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene

Glucose–galactose malabsorption (GGM) is an autosomal recessive disease caused by mutations in the Na?/glucose cotransporter gene SLC5A1 [1]. Patients with GGM present neonatal onset of severe life-threatening diarrhea and dehydration. We describe a 7-day-old boy with the typical clinical course of GGM. Our clinical diagnosis was confirmed by an abnormal chromatography of the stool. Mutation analysis revealed a novel homozygous mutation NM_003343.3 p.G488V(c.1463G[T) of SLC5A1 gene.

A child with XYY karyotype and epilepsy

The XYY chromosome abnormality is a frequently encountered numerical chromosome abnormality characterized by behavioral problems, developmental retardation and average or lower than average intelligence. A strong association with epilepsy has not been reported for the XYY anomaly unlike other chromosomal abnormalities where concurrence with seizures or epilepsy has been reported in a few studies. In this manuscript, we describe a patient with XYY karyotype, mild mental retardation and epilepsy.