Rascjepi usne i nepca s aspekta genetičara. (Croatian)

Cleft lip and cleft palate from the genetic aspect. (English)

Orofacial clefts are one of the most common craniofacial malformations in newborns. They can occur as part of a distinct genetic syndrome, multiple congenital anomaly syndrome or as an isolated malformation. Affected individuals initially face feeding difficulties, and speech, hearing and dental problems later in life. Patients can experience lifelong psychosocial effects from these malformations. The best treatment success is achieved by multidisciplinary team approach. Identification of many genes and loci that contribute to the etiology of these disorders has been the subject of numerous studies using multiple genetic approaches. Significant progress has been made recently due to advances in the sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. [ABSTRACT FROM AUTHOR]

Rascjepi usne i nepca pripadaju skupini najčešćih prirođenih anomalija. Mogu se javiti izolirano ili u sklopu sindroma. Novorođenče s rascjepom vjerojatno će imati poteškoće s hranjenjem, kasnije su moguće poteškoće sluha, razvoja govora i denticije, nerijetko se javljaju socijalne i psihološke teškoće. Stoga je problematika ovih bolesnika značajna s osobnog i društvenog stajališta, a najbolji uspjesi postižu se timskim pristupom. Bilo da se javljaju kao dio sindroma ili izolirano, identifikacija brojnih gena i genskih lokusa u etiologiji rascjepa predmet je brojnih istraživanja koja se služe različitim genetičkim pristupima. Zahvaljujući razvoju metoda sekvenciranja svih egzona i asocijacijskih studija s obuhvaćenjem cijelog genoma, posljednjih godina postignut je značajan napredak u razjašnjavanju etiologije rascjepa. [ABSTRACT FROM AUTHOR]

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