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1

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia

100%
Jamsheer A., Wisniewska M., Szpak A., Bugaj G., Krawczynski M. R., Budny B., Wawrocka A., Latos-Bielenska A.
Journal of Applied Genetics
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2009
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vol. 50
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issue 3
297-299
EN
Oculodentodigital dysplasia (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and digital anomalies. The syndrome is caused by GJA1 mutations. The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. In a Polish child with the clinical symptoms typical of ODDD, we demonstrated a novel missense mutation c.C31A resulting in p.L11F substitution. Our report provides evidence on the importance of this highly conserved amino acid residue for the proper functioning of GJA1 protein.
2

Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome

100%
Goc B., Walencka Z., Wloch A., Wojciechowska E., Wiecek-Wlodarska D., Krzystolik-Ladzinska J., Bober K., Swietlinski J.
Journal of Applied Genetics
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2006
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vol. 47
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issue 2
165-170
EN
The study aimed to analyse the clinical courses of aggressively treated neonates with cytogenetically confirmed trisomy 18, with special attention focused on the efficiency of prenatal diagnostics, associated malformations, therapeutic dilemmas and outcomes. We investigated retrospectively the data concerning 20 neonates with trisomy 18, admitted to the Neonatal Intensive Care Unit (NICU) in Katowice between January 2000 and February 2005. Their birth weights ranged from 650 g to 2400 g, mean 1812 g; gestational age ranged from 27 to 42 weeks, median 38 weeks. Intrauterine growth retardation was noticed in 90% of neonates. Trisomy 18 was suspected prenatally in 40% of cases. Most (80%) of newborns were delivered by caesarean section (92% of neonates with prenatally unrecognized chromosomal defects, 62% of neonates with trisomy 18 suspicion) and 70% of infants needed respiratory support immediately after birth. Cardiac defects were present in 95%, central nervous system malformations in 65%, severe anomalies of digestive system or abdominal wall in 25% of patients. Nine surgical operations were performed during hospitalization (4 were palliative cardiac surgeries). Six patients (30%) survived the neonatal period and were discharged from the NICU. The median survival of the neonates who died was 20 days. In 4 cases cardiac problems implicated their death; in others, deaths were attributed to multiorgan failure, prematurity and/or infection. Further improvement of efficiency of prenatal ultrasound screening for diagnosis of trisomy 18 in the fetus is necessary. A lack of prenatal diagnosis of trisomy 18 in the fetus results in a high rate of unnecessary caesarean sections in these pregnancies. Despite the aggressive treatment most neonates with trisomy 18 died during the neonatal period. The majority of deaths were attributed to cardiorespiratory and multiorgan failure. Concerning the poor prognosis, prompt karyotyping (using FISH) of clinically suspected trisomy 18 is very important, because many invasive procedures and surgeries may then be avoided.
3

Recombinant chromosome 14 due to maternal pericentric inversion

88%
Sliuzas V., Utkus A., Kucinskas V.
Journal of Applied Genetics
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2008
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vol. 49
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issue 2
205-207
EN
Chromosome 14 is often involved in various chromosome rearrangements, most of them balanced. Human chromosome 14 is acrocentric, so its pericentric inversions are extremely rare (only few cases have been described in the literature). Here we report on a boy with congenital malformations and recombinant chromosome 14 inherited from his mother carrying a pericentric inversion. The proband's G-banded chromosome analysis revealed derivative chromosome 14. Comparative genomic hybridization analysis identified duplication of the terminal part of chromosome 14q ish cgh dup(14)(q32.1qter). This abnormality has been confirmed by custom BAC FISH analysis. His mother's karyotype was 46,XX,inv(14)(p11.2q32.1).
4

Polish Registry of Congenital Malformations ? aims and organization of the registry monitoring 300 000 births a year

88%
Latos-Bielenska A., Materna-Kiryluk A.
Journal of Applied Genetics
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2005
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vol. 46
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issue 4
341-348
EN
In 1997, the Polish Registry of Congenital Malformations (PRCM) was established, to fulfil epidemiological, prophylactic, socioeconomic and scientific functions. The PRCM is a population-based registry monitoring currently about 300 000 births a year in 13 provinces. Such a large area and population require a special organizational structure of the Registry. The PRCM Central Working Group and the computer database are located in the Department of Medical Genetics, University of Medical Sciences, Pozna?. Here the data are collected, validated, encoded according to the ICD-10, and analysed. Provincial Working Groups are responsible for supervision of data collection in the given province. The PRCM staff has grown from about 250 members in 1997 to more than 400 members today. The PRCM collects information on structural defects diagnosed before the end of the second year of life. Minor anomalies are excluded from the registry. The main source of information is a registration form filled up by the physician diagnosing the anomaly. Since 2004 also electronic reporting has been possible. On 28 September 2005 there were 54 020 entries in the database concerning 33 729 children with at least one congenital malformation and 1261 control entries concerning children without malformations. The PRCM is also an important source of identification of families at genetic risk. Education of physicians and the community in the field of genetic counselling is also an important aim of the PRCM. Since 2001, the PRCM has been a member of the Eurocat. Detailed information on PRCM organization, electronic reporting, and results are available at the PRCM website (www.rejestrwad.pl).
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