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https://www.nature.com/articles/s41431-022-01219-2
Our study focuses on two adult male individuals (Sk197 and Sk331) buried in a Medieval graveyard at Ballyhanna, near the town of Ballyshannon in Co. Donegal, Ireland. Each displayed multiple bony tumours suggestive of multiple osteochondromas (MO), a rare, autosomal dominant bone condition, also known as hereditary multiple exostoses. Although these tumours are normally benign, the condition can result in limb deformity, reduced stature, compression of nerves, and, more rarely, malignancy. Surgical intervention is used to treat patients with severe osteochondromas, although those with asymptomatic MO do not require treatment.
The rural burial ground at Ballyhanna was associated with a small Medieval church, constructed after the middle of the 13th century AD, although it is possible that an earlier wooden church was present on the site. The land at that time would have been owned by a bishop and the estate lands would have been managed by an erenagh (estate manager). Radiocarbon dating showed that the earliest burials dated to the late 7th to early 8th century, but the vast majority of individuals were interred between AD 1200 and 1650, when the area around Ballyshannon was under the autonomous control of the Ó Domnaill Gaelic lords. As such, the graveyard at Ballyhanna can be considered to have essentially contained the remains of a Gaelic Medieval population. Those buried at Ballyhanna would have comprised the lower classes and included tenant farmers, labourers, merchants, artisans, clergy and the very poor.
Radiocarbon dating revealed that the two individuals were definitely not contemporaneous and were potentially separated by several hundred years. Of the two, Sk197 was the earlier individual (dated AD 689-975; UBA-11443) and was slightly older (30-40 years) when he died. While multiple osteochondromas were evident throughout his skeleton, they were generally less pronounced than those evident in Sk331. Limb length discrepancy was present in his forearm bones, his sacro-iliac joints displayed ankylosis and he would have had genu valgum during life. Unlike Sk331, he was estimated to have been of roughly average height for the population (166.8 cm). Sk331 was dated to AD 1031–1260 (UBA-11442) and was the more severe case. He displayed extensive bilateral osteochondromas, both sessile and pedunculated in form, on most bones throughout his skeleton. He also had a short stature compared to other adult males at Ballyhanna (158.3 cm), displayed a major deformity of his left forearm due to shortening of the ulna (Type 1), had unequal bone lengths due to the lesions, as well as a range of orthopaedic deformities that affected his hips, knees and left ankle; all of which are consistent with this condition. He died as a young adult (18–25 years). Neither individual appears to have suffered from any tumours that progressed to malignancy.
These men had different mitochondrial haplogroups but fell into the same clade of Y chromosome haplotypes, although Sk331 had a slightly more derived Y haplogroup. Both grouped in the cluster R1b-M222, which is known to have its highest frequency in the same northwestern region in modern Ireland. Interestingly, from modern examination of surnames, the dominant Ó Domnaill Gaelic clan in this region would have been expected to display this haplotype.
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